rs703711

Homo sapiens
G>C
UTP20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0146 (4378/29962,GnomAD)
G==0138 (4037/29118,TOPMED)
G==0162 (809/5008,1000G)
G==0167 (645/3854,ALSPAC)
G==0169 (626/3708,TWINSUK)
chr12:101280507 (GRCh38.p7) (12q23.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.101280507G>C
GRCh37.p13 chr 12NC_000012.11:g.101674285G>C

Gene: UTP20, UTP20, small subunit processome component(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UTP20 transcriptNM_014503.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.043C=0.957
1000GenomesAmericanSub694G=0.220C=0.780
1000GenomesEast AsianSub1008G=0.343C=0.657
1000GenomesEuropeSub1006G=0.170C=0.830
1000GenomesGlobalStudy-wide5008G=0.162C=0.838
1000GenomesSouth AsianSub978G=0.080C=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.167C=0.833
The Genome Aggregation DatabaseAfricanSub8722G=0.063C=0.937
The Genome Aggregation DatabaseAmericanSub838G=0.240C=0.760
The Genome Aggregation DatabaseEast AsianSub1614G=0.328C=0.672
The Genome Aggregation DatabaseEuropeSub18486G=0.164C=0.835
The Genome Aggregation DatabaseGlobalStudy-wide29962G=0.146C=0.853
The Genome Aggregation DatabaseOtherSub302G=0.200C=0.800
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.138C=0.861
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.169C=0.831
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs7037118.41E-06alcohol dependence (age at onset)24962325

eQTL of rs703711 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs703711 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr12101691390101691641E06717105
chr12101692002101692211E06717717
chr12101692243101692491E06717958
chr12101692002101692211E06917717
chr12101692243101692491E06917958
chr12101684127101684167E0719842
chr12101691390101691641E07117105
chr12101691390101691641E07217105
chr12101692002101692211E07217717
chr12101632145101633097E081-41188
chr12101633155101633205E081-41080
chr12101632145101633097E082-41188
chr12101633155101633205E082-41080






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12101673164101673326E067-959
chr12101673369101673461E067-824
chr12101673570101674315E0670
chr12101674460101674520E067175
chr12101674561101674663E067276
chr12101692853101693016E06718568
chr12101693076101693399E06718791
chr12101693724101694082E06719439
chr12101673164101673326E068-959
chr12101673369101673461E068-824
chr12101673570101674315E0680
chr12101674460101674520E068175
chr12101674561101674663E068276
chr12101692853101693016E06818568
chr12101693076101693399E06818791
chr12101673164101673326E069-959
chr12101673369101673461E069-824
chr12101673570101674315E0690
chr12101674460101674520E069175
chr12101674561101674663E069276
chr12101692853101693016E06918568
chr12101693076101693399E06918791
chr12101693724101694082E06919439
chr12101673164101673326E070-959
chr12101673369101673461E070-824
chr12101673570101674315E0700
chr12101674460101674520E070175
chr12101674561101674663E070276
chr12101673056101673115E071-1170
chr12101673121101673150E071-1135
chr12101673164101673326E071-959
chr12101673369101673461E071-824
chr12101673570101674315E0710
chr12101674460101674520E071175
chr12101674561101674663E071276
chr12101692853101693016E07118568
chr12101693076101693399E07118791
chr12101693724101694082E07119439
chr12101673164101673326E072-959
chr12101673369101673461E072-824
chr12101673570101674315E0720
chr12101674460101674520E072175
chr12101674561101674663E072276
chr12101692853101693016E07218568
chr12101693076101693399E07218791
chr12101673164101673326E073-959
chr12101673369101673461E073-824
chr12101673570101674315E0730
chr12101674460101674520E073175
chr12101674561101674663E073276
chr12101673164101673326E074-959
chr12101673369101673461E074-824
chr12101673570101674315E0740
chr12101674460101674520E074175
chr12101674561101674663E074276
chr12101692853101693016E07418568
chr12101693076101693399E07418791
chr12101693724101694082E07419439
chr12101673369101673461E081-824
chr12101673570101674315E0810
chr12101674460101674520E081175
chr12101674561101674663E081276
chr12101673056101673115E082-1170
chr12101673121101673150E082-1135
chr12101673164101673326E082-959
chr12101673369101673461E082-824
chr12101673570101674315E0820
chr12101674460101674520E082175
chr12101674561101674663E082276